Variant Calling (Record no. 5646)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 04431nam a22004935i 4500 |
| 001 - CONTROL NUMBER | |
| control field | 978-1-0716-2293-3 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20260610083632.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 220625s2022 xxu| s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781071622933 |
| -- | 978-1-0716-2293-3 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/978-1-0716-2293-3 |
| Source of number or code | doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | QH426-470 |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | PSAK |
| Source | bicssc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | SCI029000 |
| Source | bisacsh |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | PSAK |
| Source | thema |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 576.5 |
| Edition information | 23 |
| 245 10 - TITLE STATEMENT | |
| Title | Variant Calling |
| Medium | [electronic resource] : |
| Remainder of title | Methods and Protocols / |
| Statement of responsibility, etc. | edited by Charlotte Ng, Salvatore Piscuoglio. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 1st ed. 2022. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | New York, NY : |
| Name of producer, publisher, distributor, manufacturer | Springer US : |
| -- | Imprint: Humana, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2022. |
| 300 ## - online resource | |
| Extent | XI, 354 p. 57 illus., 44 illus. in color. |
| Other physical details | online resource. |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 347 ## - DIGITAL FILE CHARACTERISTICS | |
| File type | text file |
| Encoding format | |
| Source | rda |
| 490 1# - SERIES STATEMENT | |
| Series statement | Methods in Molecular Biology, |
| International Standard Serial Number | 1940-6029 ; |
| Volume/sequential designation | 2493 |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Data Processing and Germline Variant Calling with the Sentieon pipeline -- MuSE: A Novel Approach to Mutation Calling with Sample-Specific Error Modeling -- Octopus: Genotyping and Haplotyping in Diverse Experimental Designs -- Accurate Ensemble Prediction of Somatic Mutations with SMuRF2 -- Detecting Medium and Large Insertions and Deletions with Transindel -- DECoN: A detection and visualisation tool for exonic copy number variants -- FACETS: Fraction and Allele-Specific Copy Number Estimates from Tumor Sequencing -- Meerkat: An Algorithm to Reliably Identify Structural Variations and Predict Their Forming Mechanisms -- Structural Variant Detection from Long-Read Sequencing Data with cuteSV -- Identifying Somatic Mitochondrial DNA Mutations -- Identification, Quantification, and Testing of Alternative Splicing Events from RNA-Seq data using SplAdder -- PipeIT: Somatic Variant Calling Workflow for Ion Torrent Sequencing Data -- Variant calling from RNA-seq data using the GATK joint genotyping workflow -- UMI-Varcal: a low-frequency variant caller for UMI-tagged paired-end sequencing data -- Alignment-free genotyping of known variations with MALVA -- Kmer2SNP: Reference-free heterozygous SNP calling using k-mer frequency distributions -- Somatic Single Nucleotide Variant Calling from Single Cell DNA sequencing data using SCAN-SNV -- Copy Number Variation Detection by Single-Cell DNA sequencing with SCOPE -- Variant Annotation and Functional Prediction: SnpEff -- Annotating Cancer-Related Variants At Protein-Protein Interface with Structure-PPi -- Preanalytical Variables and Sample Quality Control For Clinical Variant Analysis. . |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | This volume provides practical guidance on a variety of techniques and steps to ensure successful variant calling. Chapters detail methods for variant calling from single-nucleotide variants to structural variants, variant calling in specialized data types such as RNA-seq and UMI-tagged sequencing, alignment-free genotyping and SNP calling, variant detection in single-cell DNA sequencing data, variant annotation, and preanalytical quality control to ensure successful variant calling. Written in the format of the highly successful Methods in Molecular Biology series, each chapter includes an introduction to the topic, lists step-by-step protocol to execute the algorithms, describes the input and output data, and includes tips on troubleshooting and known pitfalls. Authoritative and cutting-edge, Variant Calling: Methods and Protocols aims to be a foundation for future studies and to be a source of inspiration for new investigations in the field. . |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bioinformatics. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bioinformatics. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ng, Charlotte. |
| Relator term | editor. |
| Authority record control number or standard number | (orcid)0000-0002-6100-0026 |
| Real World Object URI | https://orcid.org/0000-0002-6100-0026 |
| Relationship | edt |
| -- | http://id.loc.gov/vocabulary/relators/edt |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piscuoglio, Salvatore. |
| Relator term | editor. |
| Relationship | edt |
| -- | http://id.loc.gov/vocabulary/relators/edt |
| 710 2# - ADDED ENTRY--CORPORATE NAME | |
| Corporate name or jurisdiction name as entry element | SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY | |
| Title | Springer Nature eBook |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9781071622926 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9781071622940 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9781071622957 |
| 830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE | |
| Uniform title | Methods in Molecular Biology, |
| International Standard Serial Number | 1940-6029 ; |
| Volume/sequential designation | 2493 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/978-1-0716-2293-3">https://doi.org/10.1007/978-1-0716-2293-3</a> |
| 912 ## - | |
| -- | ZDB-2-PRO |
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